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Questions and Answers
Which gene is most commonly associated with pathogenic variants in patients with Genetics NS?
Which gene is most commonly associated with pathogenic variants in patients with Genetics NS?
- Ras
- SHP2
- LZTR1
- PTPN11 (correct)
What is the genetic basis in the remainder of patients who do not have a pathogenic variant in the PTPN11 gene?
What is the genetic basis in the remainder of patients who do not have a pathogenic variant in the PTPN11 gene?
- Genes encoding proteins of the Ras-MAPK pathway (correct)
- Autosomal-dominant inheritance
- Autosomal-recessive inheritance
- LZTR1 gene
What is the protein encoded by the PTPN11 gene?
What is the protein encoded by the PTPN11 gene?
- SHP2 (correct)
- Ras
- Autosomal-dominant
- LZTR1
Approximately what percentage of NS may be underpinned by pathogenic variants in the LZTR1 gene?
Approximately what percentage of NS may be underpinned by pathogenic variants in the LZTR1 gene?
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Which cellular functions is the Ras-MAPK pathway signaling crucial to?
Which cellular functions is the Ras-MAPK pathway signaling crucial to?
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